ミトコンドリア遺伝子異常と内耳障害

概要

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Mitochondrial DNA lesions are closely associated with sensorineural hearing loss in approximately 70% of the three most common mitochondrial disorders: MELAS, MERRF, and CPEO. After reviewing mitochondrial DNA and inner ear disorders, we discuss the putative mechanism of deafness. We then detail clinical features associated with 1555 A-to-G substitution in the 12S ribosomal RNA gene, focusing on the possibility of this gene damaging protein synthesis, since muscular degeneration is observed similar to that in other mitochondrial encephalomyopathies. We next describe clinical auditory and vestibular dysfunction and temporal bone histopathology associated with 3243 A-to-G substitution in transfer RNA (tRNA)Leu(UUR) gene. We also discuss how to prevent deafness progression and the cochlear implantation role in subjects with mitochondrial DNA lesions.
2011-08-01